Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs16896923 1.000 0.120 6 30032910 non coding transcript exon variant T/C snv 5.0E-02 1
rs11081899 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 4
rs2191566 0.925 0.200 19 44007237 intron variant G/T snv 0.62 2
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs132774 0.776 0.280 22 41635949 intron variant C/G snv 0.69 9
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs117565607 1.000 0.120 6 30204594 intron variant T/A snv 2.3E-03 1
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs55819519 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 40
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs55832599 0.716 0.360 17 7673821 missense variant G/A snv 18
rs1131691003 0.752 0.360 17 7676381 splice donor variant C/A;G snv 12